How kConFab Contributes to Familial Breast Cancer Research

05 Oct 2016 by Krystal Barter
How kConFab Contributes to Familial Breast Cancer Research



kConFab brings together geneticists, clinicians, surgeon, genetic counsellors, psychosocial researchers, pathologists and epidemiologists from all over Australia and New Zealand who believe the causes and consequences of familial predisposition to breast cancer can be understood only by a concerted national effort at both the basic and clinical level.

What is kConFab?
The Kathleen Cuningham Foundation Consortium for Research into Familial Aspects of Breast Cancer (kConFab) is a unique research co-operative which brings together epidemiologists, medical oncologists, surgeons, radiation oncologists, molecular biologists, geneticists, genetic counsellors, statisticians, psychologists and pathologists who work together to create a resource to solve pressing clinical, genetic and epidemiological problems of familial breast/ovarian cancer. Almost every research group in Australia with a major commitment to the research of familial breast/ovarian cancer is represented in kConFab.

What are kConFab’s aims?
The risk of developing breast cancer is not spread evenly across the population. In Australia, about 120,000 women carry mutations in high risk genes and about half of them will develop breast and/or ovarian cancer. For these women and their families, breast cancer is a genetic disease that trikes particularly hard, often and early. In some families, the exact genetic cause of the disease can be identified – for example a mutation in BRCA1 or BRCA2. But in the majority of families, the gene(s) are still unknown. Our lack of knowledge about familial cancer results in significant decision-making dilemmas for cancer patients, for unaffected individuals who carry known mutations in known genes, and for women with a strong family history but unknown mutation status. These dilemmas can be resolved only through further research studies, in which biological sample and comprehensive genetic, epidemiological, clinical and psychosocial data are collected in a systematic fashion from large numbers of high risk families and made available to the breast cancer researchers around the world. By coordinating the efforts of its members across the entire spectrum of familial breast cancer, kConFaB is creating a genetic, biological, epidemiological and clinical resource of immense value to both basic and clinical researchers.

What makes kConFab unique?
kConFab is regarded, both nationally and internationally, as a model for how genetic and epidemiologic studies of this type can and should be done. What makes kConFab unique is the large number of families and individuals who are enrolled in the study and the depth of information available about each of them. Furthermore, researchers who use kConFab material agree to return their results of their research to kConFab after publication, thereby further enhancing the resource. By collecting biological samples, treatment details, environmental and lifestyle data from affected women and their close relatives of all in these families, kConFab is creating an increasingly powerful resource for researcher to, for example,

  • find new genes that cause or contribute to inherited breast cancer
  • understand the environmental factors that affect the onset and course of the disease in high risk groups
  • more accurately predict the consequences for a person who carries a mutation in BRCA1, BRCA2 or other cancer genes
  • search for genes that delay or ameliorate breast cancer in women who inherit mutations in high risk genes
  • improve counselling/psychological support to women/families at high risk
  • improve surveillance and early detection of disease in high risk women

For more information on kConFab please see www.kconfab.org.


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